نتایج جستجو برای: چرخۀ حیات lca

تعداد نتایج: 16558  

2017
Otgontuya Sambuudash Hyun-Soo Kim Mee Yon Cho

PURPOSE The molecular nature and the rate-limiting step of epigenetic field defects in the evolution of left-sided colorectal cancer (LCA) remain uncertain. MATERIALS AND METHODS The methylation status of 27 candidate field defect markers, six classic CpG island methylator phenotype (CIMP) markers, and LINE-1 were determined in LCA and adjacent normal mucosas (ADJs) from 33 LCA patients and i...

2013
Isabelle Perrault Alejandro Estrada-Cuzcano Irma Lopez Susanne Kohl Shiqiang Li Francesco Testa Renate Zekveld-Vroon Xia Wang Esther Pomares Jean Andorf Nisrine Aboussair Sandro Banfi Nathalie Delphin Anneke I. den Hollander Catherine Edelson Ralph Florijn Marc Jean-Pierre Corinne Leowski Andre Megarbane Cristina Villanueva Blanca Flores Arnold Munnich Huanan Ren Ditta Zobor Arthur Bergen Rui Chen Frans P. M. Cremers Roser Gonzalez-Duarte Robert K. Koenekoop Francesca Simonelli Edwin Stone Bernd Wissinger Qingjiong Zhang Josseline Kaplan Jean-Michel Rozet

Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Nineteen LCA genes are currently identified and three of them account for both non-syndromic and syndro...

Journal: :Vision Research 2007
Wenyu Sun Christina Gerth Akiko Maeda David T. Lodowski Lauren Van Der Kraak David A. Saperstein Elise Héon Krzysztof Palczewski

The purpose of this study was to determine the role of the retinol dehydrogenase 12 (RDH12) gene in patients affected with Leber congenital amaurosis (LCA), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant/recessive cone-rod dystrophies (CORD). Changes in the promoter region, coding regions and exon/intron junctions of the RDH12 gene were evaluated using direct DNA sequenc...

2015
Jamshid Jamali Seyyed Mohammad Taghi Ayatollahi

BACKGROUND Nurses constitute the most providers of health care systems. Their mental health can affect the quality of services and patients' satisfaction. General Health Questionnaire (GHQ-12) is a general screening tool used to detect mental disorders. Scoring method and determining thresholds for this questionnaire are debatable and the cut-off points can vary from sample to sample. This stud...

Journal: :Journal of medical genetics 2003
I Perrault S Hanein S Gerber F Barbet J-L Dufier A Munnich J-M Rozet J Kaplan

Originally described by Theodore Leber in 1869, Leber congenital amaurosis (LCA, MIM 204000) is the most early and severe form of all hereditary retinal dystrophies, responsible for congenital blindness. The diagnosis is usually made at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus, and unrecordable electroretinogram (ERG). ...

1993
Dongming Liu Zhaohui Chen Tongtong Wang Baichang Zhang Hongyuan Zhou Qiang Li

Littoral-cell angioma (LCA), a primary angioma which clinically belongs to splenic hemangioma, can be mostly found in normal spleen red sinus shore cells of reticuloendothelial cell system. The cells of LCA strongly express endothelial and tissue cell associated antigens that indicate a dual differentiation characteristic; whereas only endothelial cell markers are positive in normal spleen red ...

2014
Anna M. Siemiatkowska L. Ingeborgh van den Born Maria M. van Genderen Mette Bertelsen Ditta Zobor Klaus Rohrschneider Ramon A.C. van Huet Siska Nurohmah B. Jeroen Klevering Susanne Kohl Sultana M.H. Faradz Thomas Rosenberg Anneke I. den Hollander Rob W.J. Collin Frans P.M. Cremers

PURPOSE The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. METHODS DNA samples of 161 pat...

Journal: :Journal of environmental management 2011
Ming-Jia Yan James Humphreys Nicholas M Holden

Life cycle assessment (LCA) is a method regulated by ISO that conveys the environmental impact of products. LCA studies of the same product should be comparable to benefit environmental policy making. LCA of milk production has evaluated environmental issues such as greenhouse gas emissions, resource utilisation and land use change. Thirteen LCA studies of European milk production were analysed...

2016
Junhui Huang Qi Xue Zhao Wang Jianmin Gao

While color-coding methods have improved the measuring efficiency of a structured light three-dimensional (3D) measurement system, they decreased the measuring accuracy significantly due to lateral chromatic aberration (LCA). In this study, the LCA in a structured light measurement system is analyzed, and a method is proposed to compensate the error caused by the LCA. Firstly, based on the proj...

2012
Stephen Toth Ernst E. Brueggmann George A. Oyler Leonard A. Smith Harry B. Hines S. Ashraf Ahmed

Botulinum neurotoxins are most potent of all toxins. Their N-terminal light chain domain (Lc) translocates into peripheral cholinergic neurons to exert its endoproteolytic action leading to muscle paralysis. Therapeutic development against these toxins is a major challenge due to their in vitro and in vivo structural differences. Although three-dimensional structures and reaction mechanisms are...

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